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Kenjiro Kosaki

  • 4103 Citations
  • 32 h-Index
1991 …2020

Research output per year

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Research Output

A call for global action for rare diseases in Africa

Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., Chipeta, J. & 30 others, Gavhed, D., Larsson, A., Stojiljkovic, M., Nordgren, A., Roldan, E. J. A., Taruscio, D., Wong-Rieger, D., Nowak, K., Bilkey, G. A., Easteal, S., Bowdin, S., Reichardt, J. K. V., Beltran, S., Kosaki, K., van Karnebeek, C. D. M., Gong, M., Shuyang, Z., Mehrian-Shai, R., Adams, D. R., Puri, R. D., Zhang, F., Pachter, N., Muenke, M., Nellaker, C., Gahl, W. A., Cederroth, H., Broley, S., Schoonen, M., Boycott, K. M. & Posada, M., 2020 Jan 1, In : Nature genetics. 52, 1, p. 21-26 6 p.

Research output: Contribution to journal › Comment/debate

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles

Fukaishi, T., Minami, I., Masuda, S., Miyachi, Y., Tsujimoto, K., Izumiyama, H., Hashimoto, K., Yoshida, M., Takahashi, S., Kashimada, K., Morio, T., Kosaki, K., Maezawa, Y., Yokote, K., Yoshimoto, T. & Yamada, T., 2020 Jan 1, In : Endocrine journal. 67, 2, p. 211-218 8 p.

Research output: Contribution to journal › Article

Open Access

    • Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

    Murakami, H., Uehara, T., Tsurusaki, Y., Enomoto, Y., Kuroda, Y., Aida, N., Kosaki, K. & Kurosawa, K., 2020 Jan 1, (Accepted/In press) In : Brain and Development.

    Research output: Contribution to journal › Article

    • Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca

    Oiso, N., Kubo, A., Shimizu, A., Suzuki, H., Kosaki, K., Chikugo, T., Nakabayashi, K., Hata, K., Yanagihara, S., Ishikawa, O., Matsubara, Y., Amagai, M. & Kawada, A., 2020 Jan 1, (Accepted/In press) In : International Journal of Dermatology.

    Research output: Contribution to journal › Letter

    Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

    Suzuki-Muromoto, S., Kosaki, R., Kosaki, K. & Kubota, M., 2020 Jan 1, (Accepted/In press) In : Brain and Development.

    Research output: Contribution to journal › Article